Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus. (Q34229424)

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15 January 2020

title

Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus (English)

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15 January 2020

1 reference

1

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15 January 2020

Małgorzata Rydzanicz

7

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15 January 2020

Marzena Gajecka

11

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10

Jacek P Szaflik

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2

Justyna A Karolak

1 reference

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15 January 2020

4

Piotr Polakowski

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15 January 2020

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Dorota M Nowak

3

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15 January 2020

Jose Pitarque

5

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15 January 2020

Andrea Molinari

6

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Bassem A Bejjani

8

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Beatrice Y J T Yue

9

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publication date

2 November 2011

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European Journal of Human Genetics

15 January 2020

published in

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15 January 2020

volume

20

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issue

4

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15 January 2020

page(s)

389-397

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Primate and rodent specific intron gains and the origin of retrogenes with splice variants.

15 January 2020

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Evidence for keratoconus susceptibility locus on chromosome 14: a genome-wide linkage screen using single-nucleotide polymorphism markers

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Human genetic variation recognizes functional elements in noncoding sequence

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Absence of pathogenic mutations in VSX1 and SOD1 genes in patients with keratoconus.

6 July 2018

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Localization of a gene for keratoconus to a 5.6-Mb interval on 13q32.

6 July 2018

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6 July 2018

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Two-stage genome-wide linkage scan in keratoconus sib pair families

6 July 2018

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SOD1: a candidate gene for keratoconus

6 July 2018

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No VSX1 gene mutations associated with keratoconus

6 July 2018

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Regulation of NDR protein kinase by hydrophobic motif phosphorylation mediated by the mammalian Ste20-like kinase MST3

6 July 2018

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The cascade hypothesis of keratoconus

6 July 2018

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Splicing in action: assessing disease causing sequence changes

6 July 2018

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A novel and evolutionarily conserved PtdIns(3,4,5)P3-binding domain is necessary for DOCK180 signalling

6 July 2018

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PEDSTATS: descriptive statistics, graphics and quality assessment for gene mapping data

6 July 2018

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Developmentally regulated expression of KLF6 in the mouse cornea and lens

6 July 2018

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Identification and characterization of the nuclear import and export signals of the mammalian Ste20-like protein kinase 3.

6 July 2018

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Keratoconus, allergy, itch, eye-rubbing and hand-dominance

6 July 2018

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MONGOLISM (DOWN'S SYNDROME) AND KERATOCONUS.

6 July 2018

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Developmental expression of mouse muscleblind genes Mbnl1, Mbnl2 and Mbnl3

6 July 2018

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SIFT: Predicting amino acid changes that affect protein function

6 July 2018

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Identification of an evolutionarily conserved superfamily of DOCK180-related proteins with guanine nucleotide exchange activity

6 July 2018

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6 July 2018

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Caspase activation of mammalian sterile 20-like kinase 3 (Mst3). Nuclear translocation and induction of apoptosis

6 July 2018

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VSX1: a gene for posterior polymorphous dystrophy and keratoconus

6 July 2018

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6 July 2018

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6 July 2018

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6 July 2018

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Linkage of familial schizophrenia to chromosome 13q32

6 July 2018

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Molecular Cloning and Characterization of CDEP, a Novel Human Protein Containing the Ezrin-like Domain of the Band 4.1 Superfamily and the Dbl Homology Domain of Rho Guanine Nucleotide Exchange Factors

6 July 2018

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Cloning and Characterization of a Human STE20-like Protein Kinase with Unusual Cofactor Requirements

6 July 2018

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Expression of transcription factors in keratoconus, a cornea-thinning disease

6 July 2018

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Cloning and characterization of human karyopherin beta3

6 July 2018

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Keratoconus in two pairs of identical twins

6 July 2018

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Descent graphs in pedigree analysis: applications to haplotyping, location scores, and marker-sharing statistics

6 July 2018

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Leber congenital amaurosis and its association with keratoconus and keratoglobus.

6 July 2018

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CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice

6 July 2018

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Autosomal dominant keratoconus as the chief ocular symptom in Lobstein osteogenesis imperfecta tarda

6 July 2018

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6 July 2018

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Prevalence of mitral valve prolapse in keratoconus patients

6 July 2018

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Keratoconus and the Ehlers-Danlos syndrome: a new aspect of keratoconus

6 July 2018

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6 July 2018

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The influence of gender and hormone status on the severity and progression of keratoconus

21 January 2018

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Keratoconus clinical findings according to different age and gender groups

21 January 2018

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Influence of ethnic origin on the incidence of keratoconus and associated atopic disease in Asians and white patients

21 January 2018

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A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13.

21 January 2018

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Identification of a new locus for isolated familial keratoconus at 2p24.

21 January 2018

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Apparent autosomal dominant keratoconus in a large Australian pedigree accounted for by digenic inheritance of two novel loci

21 January 2018

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Linkage analysis in keratoconus: replication of locus 5q21.2 and identification of other suggestive Loci

21 January 2018

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Familial keratoconus with cataract: linkage to the long arm of chromosome 15 and exclusion of candidate genes.

21 January 2018

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Identity-by-descent approach to gene localisation in eight individuals affected by keratoconus from north-west Tasmania, Australia.

21 January 2018

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Computer programs for multilocus haplotyping of general pedigrees.

21 January 2018

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A locus for autosomal dominant keratoconus: linkage to 16q22.3-q23.1 in Finnish families

28 October 2018

1 reference

12 December 2020

Genomewide linkage scan in a multigeneration Caucasian pedigree identifies a novel locus for keratoconus on chromosome 5q14.3-q21.1.

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12 December 2020

The genetics of keratoconus

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12 December 2020

A novel locus for Leber congenital amaurosis (LCA4) with anterior keratoconus mapping to chromosome 17p13

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12 December 2020

Genetic and functional study of the IPO5 gene in schizophrenia

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12 December 2020

HaploPainter: a tool for drawing pedigrees with complex haplotypes

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12 December 2020

The genetics of keratoconus

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12 December 2020

Keratoconus and Psychosis

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12 December 2020

Identifiers

DOI

10.1038/EJHG.2011.203

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22045297 AND SRC:MED&resulttype=core&format=json

15 January 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:22045297 AND SRC:MED&resulttype=core&format=json

15 January 2020

PubMed publication ID

22045297

1 reference